Associated Papers
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H et al.
Journal of Clinical Immunology, 2024
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
35874699 (PubMed )
Supplement: Table_1.xlsx › Suppl_table_1
Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.
Carrillo-Tapia E et al.
Expert Review of Clinical Immunology, 2018
Atypical case of X-linked agammaglobulinemia diagnosed at 45 years of age.
Fujioka T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2011
Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain.
Shen B et al.
Protein Engineering, Design & Selection : Peds, 2004
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.
Kanegane H et al.
The Journal of Allergy and Clinical Immunology, 2001
Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.
Yip KL et al.
Human Mutation, 2000
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